Jill A. Rosenfeld

Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

Michael E. Talkowski, Jill A. Rosenfeld, Ian Blumenthal et al. · Cell · 2012 · 600 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Evolution of Human-Specific Neural SRGAP2 Genes by Incomplete Segmental Duplication

Megan Y. Dennis, Xander Nuttle, Peter H. Sudmant et al. · Cell · 2012 · 434 citations · Full text

Life Sciences, Evolutionary Biology, Genetics +16

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

Davor Lessel, Claudia Schob, Sébastien Küry et al. · The American Journal of Human Genetics · 2017 · 109 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity

Hiromi Hirata, Indrajit Nanda, Anne van Riesen et al. · The American Journal of Human Genetics · 2013 · 90 citations · Full text

Life Sciences, Genetics, Neuroscience +15

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

Jing Zhang, Tomasz Gambin, Bo Yuan et al. · Human Genetics · 2017 · 63 citations

Life Sciences, Genetics, Molecular Genetics +17